Varaico: Literature-Extracted Genetic Variants

GABRB3

314 papers

RefSeq Summary

This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid...

Pfam Domains

Neur_chan_LBDaa 37–243UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 250–468UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

gamma-aminobutyric acid type A receptor subunit beta3

HGNC Previous Name

gamma-aminobutyric acid (GABA) A receptor, beta 3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000814.6

p.E39D

c.117G>C

Surrounding Variants

2 papers

NM_000814.6

p.E39D

c.117G>T

1 paper

NM_000814.6

p.V37_E39delFs

c.110_116del7

2 papers

NM_000814.6

p.T40S

c.118A>T

2 papers

NM_000814.6

p.E39V

c.116A>T

2 papers

NM_000814.6

p.T40A

c.118A>G

2 papers

NM_000814.6

p.E39G

c.116A>G

2 papers

NM_000814.6

p.T40P

c.118A>C

2 papers

NM_000814.6

p.E39A

c.116A>C

2 papers

NM_000814.6

p.E39Q

c.115G>C

2 papers

NM_000814.6

p.E39K

c.115G>A

2 papers

NM_000814.6

p.T40M

c.119C>T

2 papers

NM_000814.6

p.T40R

c.119C>G